A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a chinese pedigree

Molecular Vision

Volumn 17, Issue , 2011, Pages 1343-1349

  Ding, Xuchen ^a   Wang, Binbin ^b   Luo, Yongfeng ^a   Hu, Shanshan ^a   Zhou, Guangkai ^a   Zhou, Zhou ^a   Wang, Jing ^b   Ma, Xu ^b   Qi, Yanhua ^a  

^a THE SECOND AFFILIATED HOSPITAL OF HARBIN MEDICAL UNIVERSITY   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 46; GENOMIC DNA; PROLINE; SERINE;

ARTICLE; CASE REPORT; CHINESE; CLINICAL EXAMINATION; CODON; CONGENITAL CATARACT; CONTROLLED STUDY; DNA EXTRACTION; EXON; FEMALE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GJA3 GENE; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PATHOGENESIS; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CATARACT; CHINA; CHROMOSOMES, HUMAN, PAIR 13; CONNEXINS; EXONS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 79959231163     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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